A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5578647



Internal ID8556050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71079295..71179547hg38UCSC Ensembl
chr2:71306425..71406677hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38100253
hg19100253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662403
Supporting Variants
SamplesNA19070
Known GenesMCEE, MPHOSPH10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5578647
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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